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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:atelosteogenesis
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Accession:DOID:0050648 term browser browse the term
Definition:An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns. (DO)
Synonyms:xref: OMIM:PS108720


show annotations for term's descendants           Sort by:
atelosteogenesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC26A2 solute carrier family 26 member 2 IAGP ClinVar Annotator: match by term: Atelosteogenesis ClinVar NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
Atelosteogenesis Type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNB filamin B IAGP
EXP		 ClinVar Annotator: match by term: Atelosteogenesis type I
ClinVar Annotator: match by term: Atelosteogenesis type I | ClinVar Annotator: match by term: Spondylohumerofemoral hypoplasia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:14991055 PMID:16752402 PMID:20301736 PMID:22190451 PMID:24624349 More... NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
Atelosteogenesis Type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129994976 ATAC-STARR-seq lymphoblastoid silent region 16504 IAGP ClinVar Annotator: match by term: Atelosteogenesis type 2 ClinVar
G SLC26A2 solute carrier family 26 member 2 IAGP
EXP		 ClinVar Annotator: match by term: Atelosteogenesis type 2
ClinVar Annotator: match by term: Atelosteogenesis type 2 | ClinVar Annotator: match by term: Atelosteogenesis type II | ClinVar Annotator: match by term: Neonatal osseous dysplasia 1
ClinVar Annotator: match by term: Atelosteogenesis type 2 | ClinVar Annotator: match by term: Atelosteogenesis type II | ClinVar Annotator: match by term: NEONATAL OSSEOUS DYSPLASIA I | ClinVar Annotator: match by term: Neonatal osseous dysplasia 1
ClinVar Annotator: match by term: De la Chapelle dysplasia
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:4644462 PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 More... NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
Atelosteogenesis Type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNB filamin B IAGP
EXP		 ClinVar Annotator: match by term: Atelosteogenesis type III
ClinVar Annotator: match by term: Atelosteogenesis type 3 | ClinVar Annotator: match by term: Atelosteogenesis type III
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:14991055 PMID:17576681 PMID:20301736 PMID:22190451 More... NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G FLNB-AS1 FLNB antisense RNA 1 IAGP ClinVar Annotator: match by term: Atelosteogenesis type III ClinVar NCBI chr 3:58,162,547...58,170,635
Ensembl chr 3:58,162,547...58,170,636 		JBrowse link
G LOC129936935 ATAC-STARR-seq lymphoblastoid active region 19999 IAGP ClinVar Annotator: match by term: Atelosteogenesis type III ClinVar PMID:25741868 PMID:28492532
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      bone development disease 3274
        osteochondrodysplasia 1231
          atelosteogenesis 5
            Atelosteogenesis Type 1 1
            Atelosteogenesis Type 2 2
            Atelosteogenesis Type 3 3
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      musculoskeletal system disease 11641
        connective tissue disease 7446
          bone disease 5601
            bone development disease 3274
              osteochondrodysplasia 1231
                atelosteogenesis 5
                  Atelosteogenesis Type 1 1
                  Atelosteogenesis Type 2 2
                  Atelosteogenesis Type 3 3
paths to the root